A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

Girirajan, Santhosh, Rosenfeld, Jill A, Cooper, Gregory M, Antonacci, Francesca, Siswara, Priscillia, Itsara, Andy, Vives, Laura, Walsh, Tom +51 more·2010·Nature Genetics
DOI 10.1038/ng.534

Cited by (668)

Items 101–200 of 668

  1. A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk
    Francesca Antonacci, Jeffrey M. Kidd, Tomàs Marquès‐Bonet, Brian P. Teague, Mario Ventura, Santhosh Girirajan, Can Alkan, Catarina D Campbell, Laura Vives, Maika Malig et al. · 2010 · Nature Genetics
  2. The genomics of schizophrenia: update and implications
    Paola Giusti‐Rodríguez, Patrick F. Sullivan · 2013 · Journal of Clinical Investigation
  3. Pathogenic or not? Assessing the clinical relevance of copy number variants
    Jayne Y. Hehir‐Kwa, Rolph Pfundt, Joris A. Veltman, Nicole de Leeuw · 2013 · Clinical Genetics
  4. Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield
    Geng, Juan, Picker, Jonathan, Zheng, Zhaojing, Zhang, Xiaoqing, Wang, Jian, Hisama, Fuki, Brown, David W, Mullen, Mary P, Harris, David, Stoler, Joan et al. · 2014 · BMC Genomics
  5. Copy Number Variation Disorders
    Tamim H. Shaikh · 2017 · Current Genetic Medicine Reports
  6. Epigenetic Impacts on Neurodevelopment: Pathophysiological Mechanisms and Genetic Modes of Action
    Farah Zahir, Carolyn J. Brown · 2011 · Pediatric Research
  7. The Genetics of Autism Spectrum Disorders
    Guillaume Huguet, Marion Benabou, Thomas Bourgeron · 2016 · Research and perspectives in endocrine interactions
  8. Phenotypic features in patients with 15q11.2(BP1‐BP2) deletion: Further delineation of an emerging syndrome
    Cafferkey, Michiala, Ahn, Joo Wook, Flinter, Frances, Ogilvie, Caroline · 2014 · American Journal of Medical Genetics Part A
  9. The genetic landscape of autism spectrum disorders
    Rasim Özgür Rosti, Abdelrahim A. Sadek, Keith K. Vaux, Joseph G. Gleeson · 2013 · Developmental Medicine & Child Neurology
  10. Disorders caused by chromosome abnormalities
    Lisa G. Shaffer, Theisen · 2010 · The Application of Clinical Genetics
  11. Rare copy number variation in cerebral palsy
    G. McMichael, Santhosh Girirajan, Andrés Moreno-De-Luca, Jozef Gécz, Chloé Shard, Lam Son Nguyen, Jillian K. Nicholl, Catherine S. Gibson, Eric Haan, Evan E. Eichler et al. · 2013 · European Journal of Human Genetics
  12. 15q11.2 microdeletion – Seven new patients with delayed development and/or behavioural problems
    von der Lippe, C., Rustad, C., Heimdal, K., Rødningen, O.K. · 2011 · European Journal of Medical Genetics
  13. Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications
    Pengfei Liu, Ayelet Erez, Sandesh C. Sreenath Nagamani, Weimin Bi, Claudia M.B. Carvalho, Alexandra D. Simmons, Joanna Wiszniewska, Ping Fang, Patricia A. Eng, M. Lance Cooper et al. · 2011 · Human Molecular Genetics
  14. Extreme enhancement or depletion of serotonin transporter function and serotonin availability in autism spectrum disorder
    Valentina Rose Garbarino, T. Lee Gilman, Lynette C. Daws, Georgianna G. Gould · 2018 · Pharmacological Research
  15. Ohnologs are overrepresented in pathogenic copy number mutations
    Aoife McLysaght, Takashi Makino, Hannah M. Grayton, Maria Tropeano, Kevin J. Mitchell, Evangelos Vassos, David Andrew Collier · 2013 · Proceedings of the National Academy of Sciences
  16. A genetic model for neurodevelopmental disease
    Bradley P. Coe, Santhosh Girirajan, Evan E. Eichler · 2012 · Current Opinion in Neurobiology
  17. Copy number variation characteristics in subpopulations of patients with autism spectrum disorders
    Anna Bremer, MaiBritt Giacobini, Mats Anders Eriksson, Peter Gustavsson, Viviann Nordin, Elisabeth Fernell, Christopher Gillberg, Ann Nordgren, Åsa Uppströmer, Britt‐Marie Anderlid et al. · 2010 · American Journal of Medical Genetics Part B Neuropsychiatric Genetics
  18. Counseling Challenges with Variants of Uncertain Significance and Incidental Findings in Prenatal Genetic Screening and Diagnosis
    Lauren E. Westerfield, Sandra A. Darilek, Ignatia B. Van den Veyver · 2014 · Journal of Clinical Medicine
  19. Genetics of the epilepsies
    Ingo Helbig, Daniel H. Lowenstein · 2013 · Current Opinion in Neurology
  20. Epilepsy associated with autism and attention deficit hyperactivity disorder: Is there a genetic link?
    Adriana Lo‐Castro, Paolo Curatolo · 2013 · Brain and Development
  21. Genomic imbalances in pediatric patients with chronic kidney disease
    Miguel Verbitsky, Simone Sanna‐Cherchi, David A. Fasel, Brynn Levy, Krzysztof Kiryluk, Matthias Wuttke, Alison G. Abraham, Frederick J. Kaskel, Anna Köttgen, Bradley A. Warady et al. · 2015 · Journal of Clinical Investigation
  22. Rethinking the genetic architecture of schizophrenia
    Kevin J. Mitchell, David John Porteous · 2010 · Psychological Medicine
  23. Deep phenotyping of speech and language skills in individuals with 16p11.2 deletion
    Mei, Cristina, Fedorenko, Evelina, Amor, David J., Boys, Amber, Hoeflin, Caitlyn, Carew, Peter, Burgess, Trent, Fisher, Simon E., Morgan, Angela T. · 2018 · European Journal of Human Genetics
  24. Managing the ethical challenges of next-generation sequencing in genomic medicine
    Angus John Clarke · 2014 · British Medical Bulletin
  25. The introduction of arrays in prenatal diagnosis: A special challenge
    Annalisa Vetro, Katelijne Bouman, Ros J. Hastings, Dominic J. McMullan, Joris Robert Vermeesch, Konstantin Miller, Birgit Sikkema‐Raddatz, David H. Ledbetter, Orsetta Zuffardi, Conny M.A. van Ravenswaaij‐Arts · 2012 · Human Mutation
  26. A framework to identify contributing genes in patients with Phelan-McDermid syndrome
    Anne‐Claude Tabet, Thomas Rolland, Marie Ducloy, Jonathan Lévy, Julien Buratti, Alexandre Mathieu, Damien Haye, Laurence Perrin, Céline Dupont, Sandrine Passemard et al. · 2017 · npj Genomic Medicine
  27. Expression of autism spectrum and schizophrenia in patients with a 22q11.2 deletion
    Jacob A. S. Vorstman, Elemi Breetvelt, Kirstin I. Thode, Eva W.C. Chow, Anne S. Bassett · 2012 · Schizophrenia Research
  28. Modifier genes and the plasticity of genetic networks in mice
    Hamilton, Bruce A., Yu, Benjamin D. · 2012 · PLoS Genetics
  29. Prenatal SNP array testing in 1000 fetuses with ultrasound anomalies: causative, unexpected and susceptibility CNVs
    Malgorzata Ilona Srebniak, Karin E. M. Diderich, Marieke Joosten, Lutgarde C. P. Govaerts, Jeroen Knijnenburg, Femke A.T. de Vries, Marjan Boter, Debora Lont, Maarten F. C. M. Knapen, M. C. de Wit et al. · 2015 · European Journal of Human Genetics
  30. Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders
    Solveig Montaut, Christine Tranchant, Nathalie Drouot, Gabrielle Rudolf, Claire Guissart, Julien Tarabeux, Tristan Stemmelen, Amandine Velt, Cécile Fourrage, Patrick Nitschké et al. · 2018 · JAMA Neurology
  31. Updates in the Genetic Evaluation of the Child with Global Developmental Delay or Intellectual Disability
    Leigh Anne Flore, Jeff M. Milunsky · 2012 · Seminars in Pediatric Neurology
  32. Human molecular cytogenetics: from cells to nucleotides
    Mariluce Riegel · 2014 · Genetics and Molecular Biology
  33. Idiopathic focal epilepsies: the “lost tribe”
    Deb K. Pal, Colin D. Ferrie, Laura Addis, Tomoyuki Akiyama, Giuseppe Capovilla, Roberto Horacio Caraballo, Anne de Saint Martin, Natalio Fejerman, Renzo Guerrini, Khalid Hamandi et al. · 2016 · Epileptic Disorders
  34. Effect of inbreeding on intellectual disability revisited by trio sequencing
    Kimia Kahrizi, Hao Hu, Masoumeh Hosseini, Vera M. Kalscheuer, Zohreh Fattahi, Maryam Beheshtian, Vanessa Suckow, Marzieh Mohseni, Bettina Lipkowitz, Sepideh Mehvari et al. · 2018 · Clinical Genetics
  35. Deconstructing Oppositional Defiant Disorder: Clinic-Based Evidence for an Anger/Irritability Phenotype
    Deborah A. G. Drabick, Kenneth D. Gadow · 2012 · Journal of the American Academy of Child & Adolescent Psychiatry
  36. The contribution of copy number variants to psychiatric symptoms and cognitive ability
    Josephine Mollon, Laura A. Almasy, Sébastien Jacquemont, David C. Glahn · 2023 · Molecular Psychiatry
  37. Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome
    Mlynarski, Elisabeth E., Sheridan, Molly B., Xie, Michael, Guo, Tingwei, Racedo, Silvia E., McDonald-McGinn, Donna M., Gai, Xiaowu, Chow, Eva W.C., Vorstman, Jacob, Swillen, Ann et al. · 2015 · The American Journal of Human Genetics
  38. 16p11.2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2
    Barber, John C K, Hall, Victoria, Maloney, Viv K, Huang, Shuwen, Roberts, Angharad M, Brady, Angela F, Foulds, Nicki, Bewes, Beverley, Volleth, Marianne, Liehr, Thomas et al. · 2013 · European Journal of Human Genetics
  39. Depression Symptoms in Boys with Autism Spectrum Disorder and Comparison Samples
    Kenneth D. Gadow, Sarit Guttmann-Steinmetz, Carolien J. Rieffe, Carla J. DeVincent · 2011 · Journal of Autism and Developmental Disorders
  40. NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families
    Maryam R. Al Shehhi, Eva Forman, Jacqueline E. Fitzgerald, Veronica McInerney, Janusz Krawczyk, Sanbing Shen, David R. Betts, Linda Mc Ardle, Kathleen Mary Gorman, Mary Dolores King et al. · 2018 · European Journal of Medical Genetics
  41. Evidence for autism spectrum disorder in Jacobsen syndrome: identification of a candidate gene in distal 11q
    Natacha A. Akshoomoff, Sarah N. Mattson, Paul Grossfeld · 2014 · Genetics in Medicine
  42. Phenotypic variability of distal 22q11.2 copy number abnormalities
    Tiong Yang Tan, Amanda Collins, Paul Andrew James, George McGillivray, Zornitza Stark, Christopher T. Gordon, Richard Jacob Leventer, Kate Pope, Robin Forbes, John Anthony Crolla et al. · 2011 · American Journal of Medical Genetics Part A
  43. Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder
    Dianne F. Newbury, Francesca Mari, Elham Sadighi Akha, Kay D. MacDermot, Roberto Canitano, Anthony P. Monaco, Jenny C. Taylor, Alessandra Renieri, Simon E. Fisher, Samantha J.L. Knight · 2012 · European Journal of Human Genetics
  44. Molecular characterization of a cohort of 73 patients with infantile spasms syndrome
    Nadia Boutry‐Kryza, Audrey Labalme, Dorothee M. Ville, Julitta de Bellescize, Renaud L. Touraine, Fabienne Prieur, S. Dimassi, Anne‐Lise Poulat, Marianne Till, Massimiliano Rossi et al. · 2014 · European Journal of Medical Genetics
  45. Disentangling the Myriad Genomics of Complex Disorders, Specifically Focusing on Autism, Epilepsy, and Schizophrenia
    Martin Poot, Jasper J. van der Smagt, Eva H. Brilstra, Thomas Bourgeron · 2011 · Cytogenetic and Genome Research
  46. Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics
    Nicolien Hanemaaijer, Birgit Sikkema‐Raddatz, Gerben B. van der Vries, Trijnie Dijkhuizen, Roel Hordijk, Anthonie J. van Essen, Hermine E. Veenstra‐Knol, Wilhelmina S. Kerstjens‐Frederikse, Johanna C. Herkert, Erica H. Gerkes et al. · 2011 · European Journal of Human Genetics
  47. The Role of De Novo Noncoding Regulatory Mutations in Neurodevelopmental Disorders
    Tychele N. Turner, Evan E. Eichler · 2018 · Trends in Neurosciences
  48. Genetic and cognitive windows into circuit mechanisms of psychiatric disease
    P. Alexander Arguello, Joseph A. Gogos · 2011 · Trends in Neurosciences
  49. Epilepsy and the new cytogenetics
    John C. Mulley, Heather C. Mefford · 2011 · Epilepsia
  50. Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions
    Maria Tropeano, Deirdre Howley, Matthew J. Gazzellone, Charles Wilson, Joo Wook Ahn, Dimitri James Stavropoulos, Clodagh M. Murphy, Peggy S. Eis, Eli Hatchwell, Richard Dobson et al. · 2016 · Journal of Medical Genetics
  51. Variation by Ethnicity in the Prevalence of Congenital Hypothyroidism Due to Thyroid Dysgenesis
    Sophie Stoppa‐Vaucher, Guy Van Vliet, Johnny Deladoëy · 2010 · Thyroid
  52. Copy-number variations on the X chromosome in Japanese patients with mental retardation detected by array-based comparative genomic hybridization analysis
    Shozo Honda, Shin Hayashi, Issei Imoto, Jun Toyama, Hitoshi Okazawa, Eiji Nakagawa, Yu‐ichi Goto, Johji Inazawa · 2010 · Journal of Human Genetics
  53. Exon‐disrupting deletions of NRXN1 in idiopathic generalized epilepsy
    Rikke Steensbjerre Møller, Yvonne G. Weber, Laura Line Klitten, Holger Trucks, Hiltrud Muhle, Wolfram S. Kunz, Heather C. Mefford, Andre Franke, Monika Kautza, Peter Wolf et al. · 2013 · Epilepsia
  54. A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms
    Eva Hladílková, Tuva Barøy, Madeleine Fannemel, Vladimíra Vallová, Doriana Misceo, Vesna Bryn, Iva Slámová, Šárka Prášilová, Petr Kuglík, Eirik Frengen · 2015 · Molecular Cytogenetics
  55. Maternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV
    Michael Duyzend, Xander Nuttle, Bradley P. Coe, Carl A. Baker, Deborah A. Nickerson, Raphael Bernier, Evan E. Eichler · 2015 · The American Journal of Human Genetics
  56. Identification of two inherited copy number variants in a male with autism supports two‐hit and compound heterozygosity models of autism
    Susan Shur‐Fen Gau, Hsiao‐Mei Liao, Chao‐Chun Hong, Wei‐Hsien Chien, Chia‐Hsiang Chen · 2012 · American Journal of Medical Genetics Part B Neuropsychiatric Genetics
  57. Role of Copy Number Variants in Structural Birth Defects
    Abigail E. Southard, Lisa J. Edelmann, Bruce D. Gelb · 2012 · PEDIATRICS
  58. Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability
    А. А. Кашеварова, Л. П. Назаренко, Søren Schultz-Pedersen, Nikolay Alekseevich Skryabin, Olga A. Salyukova, Nataliya N. Chechetkina, Ekaterina N. Tolmacheva, Алексей Анатольевич Рудко, Pamela Magini, Claudio Graziano et al. · 2014 · Molecular Cytogenetics
  59. 9p partial monosomy and disorders of sex development: Review and postulation of a pathogenetic mechanism
    Shane C. Quinonez, John M. Park, Raja M. Rabah, Kailey M. Owens, Beverly M. Yashar, Thomas W. Glover, Catherine E. Keegan · 2013 · American Journal of Medical Genetics Part A
  60. Genetic analysis of GABRB3 as a candidate gene of autism spectrum disorders
    Chia‐Hsiang Chen, Chia-Chun Huang, Min-Chih Cheng, Yen‐Nan Chiu, Wen‐Che Tsai, Yu‐Yu Wu, Shih-Kai Liu, Susan Shur‐Fen Gau · 2014 · Molecular Autism
  61. A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability
    Anne‐Laure Mosca‐Boidron, Lucie Gueneau, Guillaume Huguet, Alice Goldenberg, Céline Henry, Nadège Gigot, Emilie Pallesi‐Pocachard, Antonio Falace, Laurence Duplomb, Julien Thévenon et al. · 2015 · European Journal of Human Genetics
  62. When genotype is not predictive of phenotype: implications for genetic counseling based on 21,594 chromosomal microarray analysis examinations
    Idit Maya, Reuven Sharony, Shiri Yacobson, Sarit Kahana, Josepha Yeshaya, Tamar Tenne, Ifaat Agmon‐Fishman, Lital Cohen-Vig, Yael Goldberg, Racheli Berger et al. · 2017 · Genetics in Medicine
  63. Copy number variants in candidate genes are genetic modifiers of Hirschsprung disease
    Jiang, Qian, Ho, Yen-Yi, Hao, Li, Nichols Berrios, Courtney, Chakravarti, Aravinda · 2011 · PLoS ONE
  64. Heterozygous deletion of CHL1 gene: Detailed array-CGH and clinical characterization of a new case and review of the literature
    Elisa Tassano, Roberta Biancheri, Laura Denegri, Simona Porta, Francesca Novara, Orsetta Zuffardi, Giorgio Gimelli, Cristina Cuoco · 2014 · European Journal of Medical Genetics
  65. Bringing machine learning to research on intellectual and developmental disabilities: taking inspiration from neurological diseases
    Chirag Gupta, Pramod Bharadwaj Chandrashekar, Ting Jin, Chenfeng He, Saniya Khullar, Qiang Chang, Daifeng Wang · 2022 · Journal of Neurodevelopmental Disorders
  66. Lessons from Model Organisms: Phenotypic Robustness and Missing Heritability in Complex Disease
    Christine Queitsch, Keisha D. Carlson, Santhosh Girirajan · 2012 · PLoS Genetics
  67. Digenic inheritance and Mendelian disease
    James R. Lupski · 2012 · Nature Genetics
  68. The Genetics of Autism Spectrum Disorders – A Guide for Clinicians
    Karsten M. Heil, Christian Patrick Schaaf · 2012 · Current Psychiatry Reports
  69. Characterization of intellectual disability and autism comorbidity through gene panel sequencing
    Maria Cristina Aspromonte, Mariagrazia Bellini, Alessandra Gasparini, Marco Carraro, Elisa Bettella, Roberta Polli, Federica Cesca, Stefania Bigoni, Stefania Boni, Ombretta Carlet et al. · 2019 · Human Mutation
  70. Genetic counseling for susceptibility loci and neurodevelopmental disorders: The del15q11.2 as an example
    Veerle De Wolf, Nathalie Brison, Koenraad Devriendt, Hilde Peeters · 2013 · American Journal of Medical Genetics Part A
  71. Recurrent duplications of 17q12 associated with variable phenotypes
    Elyse B. Mitchell, Andrew G. L. Douglas, Susanne Kjaegaard, Bert Louis Callewaert, Arnaud Vincent Vanlander, Sandra Janssens, Amy Lawson Yuen, Cindy D. Skinner, Pinella Failla, A Alberti et al. · 2015 · American Journal of Medical Genetics Part A
  72. Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization
    Jennifer J.S. Laffin, Gordana Raca, Craig A Jackson, Edythe A. Strand, Kathy J. Jakielski, Lawrence D. Shriberg · 2012 · Genetics in Medicine
  73. Copy‐number variation in the pathogenesis of autism spectrum disorder
    Emiko Shishido, Branko Aleksić, Norio Ozaki · 2013 · Psychiatry and Clinical Neurosciences
  74. Microarrays in prenatal diagnosis
    Beatrice Oneda, Anita M. Rauch · 2017 · Best Practice & Research Clinical Obstetrics & Gynaecology
  75. Deletions of 16p11.2 and 19p13.2 in a family with intellectual disability and generalized epilepsy
    Alexander G. Bassuk, Eileen Geraghty, Shu Wu, Saul Alator Mullen, Samuel Frank Berkovic, Ingrid Eileen Scheffer, Heather C. Mefford · 2013 · American Journal of Medical Genetics Part A
  76. New candidate loci identified by array‐CGH in a cohort of 100 children presenting with syndromic obesity
    Marie‐Laure Vuillaume, Sophie Naudion, Guillaume Banneau, Gwénaëlle Diene, Audrey Cartault, Dorothée Cailley, Julie Bouron, Jérôme Toutain, Georges Bourrouillou, Adeline Vigouroux et al. · 2014 · American Journal of Medical Genetics Part A
  77. Correlating Multiallelic Copy Number Polymorphisms with Disease Susceptibility
    Stuart Cantsilieris, Stefan J. White · 2012 · Human Mutation
  78. Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats
    Paweł Stankiewicz, Shashikant Kulkarni, Avinash V. Dharmadhikari, Srirangan Sampath, Samarth Bhatt, Tamim H. Shaikh, Zhilian Xia, Amber Nolen Pursley, M. Lance Cooper, Marwan S. Shinawi et al. · 2011 · Human Mutation
  79. Genome-Wide Copy Number Analysis Uncovers a New HSCR Gene: NRG3
    Clara Sze-Man Tang, Guo Cheng, Man‐Ting So, Benjamin Hon Kei Yip, Xiaoping Miao, Emily Hoi-Man Wong, Esw Ngan, Vincent Chi‐Hang Lui, You‐Qiang Song, Danny Tat-Ming Chan et al. · 2012 · PLoS Genetics
  80. New Technologies for the Identification of Novel Genetic Markers of Disorders of Sex Development (DSD)
    Anu Bashamboo, Susanne Ledig, Peter F. Wieacker, John C. Achermann, Ken McElreavey · 2010 · Sexual Development
  81. Analysis of CHRNA7 rare variants in autism spectrum disorder susceptibility
    Elena Bacchelli, Agatino Battaglia, Cinzia Cameli, Silvia Lomartire, Raffaella Tancredi, Susanne A. M. Thomson, James S. Sutcliffe, Elena Maestrini · 2015 · American Journal of Medical Genetics Part A
  82. Deep exon resequencing of DLGAP2 as a candidate gene of autism spectrum disorders
    Wei‐Hsien Chien, Susan Shur‐Fen Gau, Hsiao‐Mei Liao, Yen‐Nan Chiu, Yu‐Yu Wu, Yu‐Shu Huang, Wen‐Che Tsai, Ho-Min Tsai, Chia‐Hsiang Chen · 2013 · Molecular Autism
  83. Understanding the impact of 1q21.1 copy number variant
    Chansonette Harvard, Emma Strong, Eloi Mercier, Rita Colnaghi, Diana Alcantara, Eva W. C. Chow, Sally Martell, Christine Tyson, Monica Anne Hrynchak, Barbara C. McGillivray et al. · 2011 · Orphanet Journal of Rare Diseases
  84. Genome-wide approaches to schizophrenia
    Jubao Duan, Alan R. Sanders, Pablo V. Gejman · 2010 · Brain Research Bulletin
  85. Links between genetics and pathophysiology in the autism spectrum disorders
    Richard Holt, Anthony P. Monaco · 2011 · EMBO Molecular Medicine
  86. Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children
    Cristina Cuoco, Patrizia Ronchetto, Stefania Gimelli, Frédérique Béna, Maria Teresa Divizia, Margherita Lerone, Marisol Mirabelli-Badenier, Monica Mascaretti, Giorgio Gimelli · 2011 · Orphanet Journal of Rare Diseases
  87. Clinical Utility of Chromosomal Microarray Analysis
    Jay W. Ellison, J. Britt Ravnan, Jill Anne Rosenfeld, S. Annie Morton, Nicholas J. Neill, Marc S. Williams, Jodi Lewis, Beth S. Torchia, Cathryn Walker, Ryan N. Traylor et al. · 2012 · PEDIATRICS
  88. Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder
    Areerat Hnoonual, Weerin Thammachote, Thipwimol Tim‐Aroon, Kitiwan Rojnueangnit, Tippawan Hansakunachai, Tasanawat Sombuntham, Rawiwan Roongpraiwan, Juthamas Worachotekamjorn, Jariya Chuthapisith, Suthat Fucharoen et al. · 2017 · Scientific Reports
  89. Benefits and Burdens of Using a SNP Array in Pregnancies at Increased Risk for the Common Aneuploidies
    Diane Van Opstal, Femke de Vries, Lutgarde C. P. Govaerts, Marjan Boter, Debora Lont, Stefanie van Veen, Marieke Joosten, Karin E. M. Diderich, R. J. H. Galjaard, Malgorzata Ilona Srebniak · 2014 · Human Mutation
  90. Chromosome 15q24 microdeletion syndrome
    Pilar L. Magoulas, Ayman W. El‐Hattab · 2012 · Orphanet Journal of Rare Diseases
  91. Recurrent 15q11.2 BP1‐BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders
    Chiara Picinelli, Carla Lintas, Ignazio Stefano Piras, Stefano Gabriele, Roberto Sacco, Claudia Brogna, Antonio Maria Persico · 2016 · American Journal of Medical Genetics Part B Neuropsychiatric Genetics
  92. Pregnant couples at increased risk for common aneuploidies choose maximal information from invasive genetic testing
    Sanne Steen, Karin E. M. Diderich, Sam R. Riedijk, J. Verhagen‐Visser, L. C. P. Govaerts, Marieke Joosten, Maarten F. C. M. Knapen, Diane Van Opstal, Malgorzata Ilona Srebniak, Aad Tibben et al. · 2014 · Clinical Genetics
  93. Microdeletion syndromes
    Gemma L. Carvill, Heather C. Mefford · 2013 · Current Opinion in Genetics & Development
  94. Neurogenetics: Advancing the “Next-Generation” of Brain Research
    Zoghbi, Huda Y., Warren, Stephen T. · 2010 · Neuron
  95. A microdeletion encompassing PHF21A in an individual with global developmental delay and craniofacial anomalies
    Jonathan D. J. Labonne, Julie Vogt, Lisa Reali, Il‐Keun Kong, Lawrence Clarke Layman, Hyung‐Goo Kim · 2015 · American Journal of Medical Genetics Part A
  96. Changing interpretation of chromosomal microarray over time in a community cohort with intellectual disability
    Elizabeth E. Palmer, H. J. L. Speirs, Peter J Taylor, Glenda L. Mullan, Gillian Turner, Stewart Einfeld, Bruce John Tonge, David R. Mowat · 2013 · American Journal of Medical Genetics Part A
  97. Refining the Phenotype of Recurrent Rearrangements of Chromosome 16
    Serena Redaelli, Silvia Beatrice Maitz, Francesca Crosti, Elena Maria Sala, Nicoletta Villa, Luigina Spaccini, Angelo Selicorni, Miriam Rigoldi, Donatella Conconi, Leda Dalprà et al. · 2019 · International Journal of Molecular Sciences
  98. Germline 16p11.2 Microdeletion Predisposes to Neuroblastoma
    Laura E. Egolf, Zalman Vaksman, Gonzalo López, Jo Lynne Rokita, Apexa Modi, Patricia V. Basta, Hakon H. Hakonarson, Andrew F. Olshan, Sharon J. Diskin · 2019 · The American Journal of Human Genetics
  99. Clinical Characterization of Copy Number Variants Associated With Neurodevelopmental Disorders in a Large-scale Multiancestry Biobank
    Rebecca Birnbaum, Behrang Mahjani, Ruth J. F. Loos, Andrew J. Sharp · 2022 · JAMA Psychiatry
  100. A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3
    Alistair T. Pagnamenta, Richard Holt, Mohammed Yusuf, Dalila Pinto, Kirsty Wing, Catalina Betancur, Stephen W. Scherer, Emanuela Valeria Volpi, Anthony P. Monaco · 2011 · Journal of Neurodevelopmental Disorders